Lagotto Storage Disease (LSD)
Kodas: H627
Short description
Lagotto Storage Disease is a metabolic disorder that is caused by enzyme deficiencies within the lysosome, resulting in the accumulation of undegraded substrates.
General information
Lagotto Storage Disease is a metabolic disorder that is caused by enzyme deficiencies within the lysosome, resulting in the accumulation of undegraded substrates. The disorder is also known as Lysosomal Storage Disease (LSD), aberrant autophagy or Neurodegenerative Vacuolar Storage Disease. An autosomal recessive mutation in the ATG4D gene causes this LSD, which is observed in the Lagotto Romagnolo.
Specifications
| Breeds | |
|---|---|
| Gene | ATG4D |
| Chromosome | 20 |
| Mutation | c.1288G>A |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | Lagotto storage disease; LSD; Aberrant Autophagy |
Clinical features
The typical clinical sign in affected dogs is progressive ataxia with occasional nystagmus and behavioral abnormalities.
References
Pubmed ID: 25875846
Year published: 2015
Omia ID: 1954
Omia variant ID:
Turnaround information
- 10 working days